Two cases of Kabuki syndrome

Abstract

Aim: To describe two cases of Kabuki syndrome (KS) and the relevant signs which aid in the diagnosis. Methods: The cases arc documented with details of history, orthoptic and ophthalmic findings and the criteria by which KS is identified. Results: KS is rare. The five main criteria used to define the syndrome are characteristic facial features, skeletal anomalies, dermatoglyphic anomalies, men­tal retardation and short stature. Five facial features arc a key element in the diagnosis. Both children reported had the characteristic facial features. In addition they were of short stature, had hearing loss, learning difficulties, and speech and language pro­blems. Thirty to fifty per cent of children with KS will have ophthalmic involvement. One child pre­sented to the eve clinic with ocular problems; the other was seen via the child development team. Conclusion: Ocular problems are common in chil­dren with KS and these children will present to orthoptic departments for assessment. It is important for orthoptists to he aware of this syndrome.